A curated catalogue of human genomic structural variation
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Variant Details
Variant: dgv3990e59
Internal ID
20130739
Landmark
Location Information
Type
Coordinates
Assembly
Other Links
chr7:148869196..148869802
hg38
UCSC
Ensembl
chr7:148566288..148566894
hg19
UCSC
Ensembl
chr7:148197221..148197827
hg18
UCSC
Ensembl
Cytoband
7q36.1
Allele length
Assembly
Allele length
hg38
607
hg19
607
hg18
607
Variant Type
CNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged Status
M
Merged Variants
Supporting Variants
esv3302512
,
esv3302920
Samples
NA18504, NA18489, NA18498, NA18520, NA19239, NA18871, NA18907, NA18499, NA18912, NA18523, NA18909, NA19240, NA18505, NA18511
Known Genes
EZH2
Method
Sequencing
Analysis
Platform
Illumina
Comments
Reference
1000_Genomes_Consortium_Pilot_Project
Pubmed ID
20981092
Accession Number(s)
dgv3990e59
Frequency
Sample Size
185
Observed Gain
14
Observed Loss
0
Observed Complex
0
Frequency
n/a
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